| Primary Identifier | MGI:1353495 | Organism | mouse, laboratory |
| Chromosome | 8 | NCBI Gene Number | 11739 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables ATP:ADP antiporter activity; oxidative phosphorylation uncoupler activity; and proton transmembrane transporter activity. Involved in several processes, including nucleotide transmembrane transport; positive regulation of mitophagy; and regulation of mitochondrial membrane permeability. Acts upstream of or within apoptotic mitochondrial changes. Located in mitochondrial inner membrane and myelin sheath. Part of mitochondrial permeability transition pore complex. Is expressed in embryo and liver. Human ortholog(s) of this gene implicated in intrinsic cardiomyopathy (multiple); mitochondrial DNA depletion syndrome (multiple); and mitochondrial myopathy (multiple). Orthologous to human SLC25A4 (solute carrier family 25 member 4). PHENOTYPE: Homozygous null mice exhibit a defect in mitochondrial energy metabolism and develop mitochondrial myopathy and hypertrophic cardiomyopathy, metabolic acidosis, and a severe exercise intolerance. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
